Variant report

Variant	esv3350734
Chromosome Location	chr7:123938050-123955589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:123938093..123940517-chr7:124074999..124077404,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144776141	chr7:123951025-123951026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386717440	chr7:123951026-123951027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201254401	chr7:123951029-123951030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566724402	chr7:123951030-123951031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71574793	chr7:123951042-123951043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150007667	chr7:123951057-123951058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146099465	chr7:123951111-123951112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140087724	chr7:123951115-123951116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537690933	chr7:123951191-123951192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554329394	chr7:123951192-123951193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73431419	chr7:123951242-123951243	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73722105	chr7:123951267-123951268	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544062693	chr7:123951270-123951271	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs143548714	chr7:123951301-123951302	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146789130	chr7:123951307-123951308	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545884105	chr7:123951377-123951378	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562488204	chr7:123951394-123951395	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77329226	chr7:123951399-123951400	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541634017	chr7:123951436-123951437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181845299	chr7:123951440-123951441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56152509	chr7:123951452-123951453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73722106	chr7:123951486-123951487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574230030	chr7:123951506-123951507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184875907	chr7:123951511-123951512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552534519	chr7:123951520-123951521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569045278	chr7:123951557-123951558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7784625	chr7:123951585-123951586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370925903	chr7:123951681-123951682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142999789	chr7:123951682-123951683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567882320	chr7:123951702-123951703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559655470	chr7:123951730-123951731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528489925	chr7:123951768-123951769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541292753	chr7:123951784-123951785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564255137	chr7:123951786-123951787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188838552	chr7:123951790-123951791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532947508	chr7:123951796-123951797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561929417	chr7:123951821-123951822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7785063	chr7:123951835-123951836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180704508	chr7:123951841-123951842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79178518	chr7:123951854-123951855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569409548	chr7:123951911-123951912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539100160	chr7:123951925-123951926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185335272	chr7:123951929-123951930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73722107	chr7:123951948-123951949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541917454	chr7:123951974-123951975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529739717	chr7:123952008-123952009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561481513	chr7:123952026-123952027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151087105	chr7:123952079-123952080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547812511	chr7:123952083-123952084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540819008	chr7:123952126-123952127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:123951000-123951400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:123951200-123951400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:123951200-123951400	ZNF genes & repeats	Pancreas	Pancrea
4	chr7:123951400-123956000	Weak transcription	Pancreas	Pancrea
5	chr7:123953400-123954400	Enhancers	Fetal Lung	lung
6	chr7:123954400-123956600	Weak transcription	Fetal Lung	lung

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